DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Superior crus of antihelix expression. The EFO term superior crus of antihelix expression was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: superior crus of antihelix expression

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Adhikari, G Reales, AJ Smith, E Konka, J Palmen, M Quinto-Sanchez, V Acuña-Alonzo, C Jaramillo, W Arias, M Fuentes, M Pizarro, R Barquera Lozano, G Macín Pérez, J Gómez-Valdés, H Villamil-Ramírez, T Hunemeier, V Ramallo, CC Silva de Cerqueira, M Hurtado, V Villegas, V Granja, C Gallo, G Poletti, L Schuler-Faccini, FM Salzano, MC Bortolini, S Canizales-Quinteros, F Rothhammer, G Bedoya, R Calderón, J Rosique, M Cheeseman, MF Bhutta, SE Humphries, R Gonzalez-José, D Headon, D Balding, A Ruiz-Linares

TITLE:

A genome-wide association study identifies multiple loci for variation in human ear morphology.

JOURNAL:

Nature communications Jun 2015, Vol 6, pp. 7500

ABSTRACT:

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1. PUBMED: 26105758
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